Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606978
rs267606978
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
G 0.700 GeneticVariation CLINVAR Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. 19787389 2009
dbSNP: rs267606978
rs267606978
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
G 0.700 GeneticVariation CLINVAR Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. 16716659 2006